ClinVar Miner

Submissions for variant NM_000197.2(HSD17B3):c.383T>C (p.Leu128Ser)

dbSNP: rs767765046
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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 RCV000581861 SCV000692118 likely pathogenic Pseudohermaphroditism 2017-03-29 no assertion criteria provided clinical testing

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