ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.-125G>A

gnomAD frequency: 0.07860  dbSNP: rs9333594
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000456069 SCV000540339 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 140/2178= 6.42%
Eurofins Ntd Llc (ga) RCV000456069 SCV000855166 benign not specified 2018-05-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001672773 SCV001159016 benign not provided 2023-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001511009 SCV001718182 benign Holoprosencephaly 3 2024-12-02 criteria provided, single submitter clinical testing
GeneDx RCV001672773 SCV001889135 benign not provided 2018-07-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 18252212)
Breakthrough Genomics, Breakthrough Genomics RCV001672773 SCV005269476 benign not provided criteria provided, single submitter not provided

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