ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1569G>A (p.Leu523=)

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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 RCV002875890 SCV003228853 likely benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2022-08-12 criteria provided, single submitter clinical testing

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