ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.964-10C>T

gnomAD frequency: 0.00001  dbSNP: rs753345689
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001470609 SCV001674705 likely benign Smith-Lemli-Opitz syndrome 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV002285485 SCV002575462 likely benign not provided 2021-01-22 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV001470609 SCV002794813 likely benign Smith-Lemli-Opitz syndrome 2022-02-16 criteria provided, single submitter clinical testing

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