ClinVar Miner

Submissions for variant NM_023036.6(DNAI2):c.231C>T (p.Val77=)

gnomAD frequency: 0.00009  dbSNP: rs370352545
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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 RCV000527715 SCV000624451 likely benign Primary ciliary dyskinesia 2024-10-13 criteria provided, single submitter clinical testing

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