ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1182C>T (p.Asn394=)

gnomAD frequency: 0.00007  dbSNP: rs376465385
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123292 SCV000166599 likely benign Multiple endocrine neoplasia, type 2 2023-12-28 criteria provided, single submitter clinical testing
Counsyl RCV000411914 SCV000489969 likely benign Multiple endocrine neoplasia, type 2b 2016-08-30 criteria provided, single submitter clinical testing
Counsyl RCV000409399 SCV000489970 likely benign Multiple endocrine neoplasia, type 2a 2016-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565850 SCV000674864 likely benign Hereditary cancer-predisposing syndrome 2015-09-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV002492443 SCV002803744 likely benign Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia, type 2b; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2a 2021-08-18 criteria provided, single submitter clinical testing

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