ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.885C>T (p.Ser295=)

gnomAD frequency: 0.00234  dbSNP: rs549625672
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000056158 SCV000639509 likely benign Holoprosencephaly 3 2023-11-13 criteria provided, single submitter clinical testing
GeneDx RCV001705710 SCV001829710 likely benign not provided 2019-01-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20425842)
Breakthrough Genomics, Breakthrough Genomics RCV001705710 SCV005219899 likely benign not provided criteria provided, single submitter not provided
GeneReviews RCV000056158 SCV000087242 non-pathogenic Holoprosencephaly 3 2013-08-29 no assertion criteria provided curation Converted during submission to Benign.

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