ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.990T>C (p.Asp330=)

gnomAD frequency: 0.00052  dbSNP: rs376654503
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000863984 SCV001004723 benign Familial aplasia of the vermis 2025-01-09 criteria provided, single submitter clinical testing
GeneDx RCV001556727 SCV001778358 likely benign not provided 2020-11-05 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001556727 SCV001919979 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001556727 SCV001972938 likely benign not provided no assertion criteria provided clinical testing

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