ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.2107C>T (p.Pro703Ser)

dbSNP: rs201433617
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662222 SCV000784579 uncertain significance Autosomal dominant nonsyndromic hearing loss 1 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662223 SCV000784580 uncertain significance Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2018-03-05 criteria provided, single submitter clinical testing

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