ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1719C>T (p.Asp573=)

gnomAD frequency: 0.00001  dbSNP: rs886038629
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247063 SCV000312862 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001722334 SCV000718277 likely benign not provided 2021-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001399179 SCV001600964 likely benign Familial aplasia of the vermis 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500911 SCV002805825 likely benign Joubert syndrome 3 2021-12-29 criteria provided, single submitter clinical testing

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