ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.963+1G>T

dbSNP: rs1057516973
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411265 SCV000486523 likely pathogenic Smith-Lemli-Opitz syndrome 2016-06-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000411265 SCV001527922 pathogenic Smith-Lemli-Opitz syndrome 2018-12-13 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV000411265 SCV005629834 likely pathogenic Smith-Lemli-Opitz syndrome 2024-06-04 criteria provided, single submitter clinical testing

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