ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.192T>C (p.Ile64=)

gnomAD frequency: 0.00001  dbSNP: rs200426800
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001394635 SCV001596324 likely benign not provided 2024-10-23 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256757 SCV002535434 likely benign Hereditary cancer-predisposing syndrome 2020-12-17 criteria provided, single submitter curation
Ambry Genetics RCV002256757 SCV002717494 likely benign Hereditary cancer-predisposing syndrome 2020-08-04 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.

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