ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.1295A>T (p.Tyr432Phe)

dbSNP: rs1565584679
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001278594 SCV001465621 uncertain significance Smith-Lemli-Opitz syndrome 2020-08-14 no assertion criteria provided clinical testing

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