ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.3792C>T (p.Ala1264=)

dbSNP: rs2099885771
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001501923 SCV001706745 likely benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2019-02-04 criteria provided, single submitter clinical testing

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