ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1701T>C (p.His567=)

gnomAD frequency: 0.00001  dbSNP: rs1787360423
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001505726 SCV001710634 likely benign Familial aplasia of the vermis 2021-12-27 criteria provided, single submitter clinical testing

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