ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.630C>T (p.Gly210=)

gnomAD frequency: 0.01171  dbSNP: rs9333634
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177011 SCV000228815 benign not specified 2014-07-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001707518 SCV000605106 benign not provided 2023-09-22 criteria provided, single submitter clinical testing
Invitae RCV000056129 SCV000639506 benign Holoprosencephaly 3 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001707518 SCV001935526 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32542401)
CeGaT Center for Human Genetics Tuebingen RCV001707518 SCV004159353 benign not provided 2023-01-01 criteria provided, single submitter clinical testing SHH: BP4, BP7, BS1, BS2
GeneReviews RCV000056129 SCV000087207 non-pathogenic Holoprosencephaly 3 2013-08-29 no assertion criteria provided curation Converted during submission to Benign.

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