ClinVar Miner

Submissions for variant NM_000197.2(HSD17B3):c.397G>A (p.Gly133Arg)

gnomAD frequency: 0.00002  dbSNP: rs747724352
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000583122 SCV000692119 pathogenic Pseudohermaphroditism 2010-09-28 no assertion criteria provided clinical testing

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