ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1530C>T (p.Ala510=)

gnomAD frequency: 0.00009  dbSNP: rs553492964
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000205208 SCV000260155 likely benign Multiple endocrine neoplasia, type 2 2023-12-14 criteria provided, single submitter clinical testing
Counsyl RCV000409713 SCV000490033 likely benign Multiple endocrine neoplasia type 2B 2016-10-05 criteria provided, single submitter clinical testing
Counsyl RCV000410799 SCV000490034 likely benign Multiple endocrine neoplasia type 2A 2016-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000576018 SCV000674757 likely benign Hereditary cancer-predisposing syndrome 2017-01-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002494522 SCV002801819 likely benign Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2022-02-17 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000410799 SCV004018485 benign Multiple endocrine neoplasia type 2A 2023-04-18 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
All of Us Research Program, National Institutes of Health RCV000205208 SCV004829301 likely benign Multiple endocrine neoplasia, type 2 2023-11-02 criteria provided, single submitter clinical testing

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