ClinVar Miner

Submissions for variant NM_014639.4(SKIC3):c.829G>A (p.Gly277Ser)

gnomAD frequency: 0.00014  dbSNP: rs200385766
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331871 SCV001524015 uncertain significance Trichohepatoenteric syndrome 1 2019-01-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002070169 SCV002404483 benign not provided 2024-09-03 criteria provided, single submitter clinical testing
GeneDx RCV002070169 SCV002552938 uncertain significance not provided 2022-01-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV002070169 SCV004159153 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing SKIC3: BS1

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