ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.510A>G (p.Gln170=)

gnomAD frequency: 0.00018  dbSNP: rs200684252
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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 RCV000242943 SCV000316896 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001451545 SCV001655176 likely benign Cerebral cavernous malformation 2023-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298328 SCV003989445 likely benign Inborn genetic diseases 2023-05-27 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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