ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.1078C>T (p.Leu360=)

gnomAD frequency: 0.00074  dbSNP: rs191903572
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724131 SCV000228812 uncertain significance not provided 2018-09-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089098 SCV000639505 benign Holoprosencephaly 3 2024-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000177008 SCV000730594 likely benign not specified 2017-12-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics RCV000724131 SCV001145617 benign not provided 2019-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003338447 SCV004060063 likely benign Inborn genetic diseases 2023-06-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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