ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.783G>A (p.Lys261=)

gnomAD frequency: 0.00002  dbSNP: rs727502962
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150406 SCV000197584 likely benign not specified 2014-03-06 criteria provided, single submitter clinical testing Lys261Lys in exon 8 of DIAPH1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003764909 SCV004582177 likely benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2023-08-07 criteria provided, single submitter clinical testing

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