ClinVar Miner

Submissions for variant NM_001098672.2(HEPHL1):c.3050A>G (p.Asp1017Gly)

dbSNP: rs762786968
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001375938 SCV001572924 uncertain significance Pili torti-developmental delay-neurological abnormalities syndrome 2019-10-17 criteria provided, single submitter clinical testing

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