ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.171C>T (p.Asp57=)

gnomAD frequency: 0.00001  dbSNP: rs138165457
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249736 SCV000310069 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000549983 SCV000648631 likely benign Neuroblastoma, susceptibility to, 3 2023-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165694 SCV003897947 likely benign Hereditary cancer-predisposing syndrome 2022-12-07 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.

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