ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1893-6C>T

gnomAD frequency: 0.00313  dbSNP: rs139904712
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720032 SCV000517346 likely benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Invitae RCV000872110 SCV001013878 benign Holocarboxylase synthetase deficiency 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521560 SCV003552756 likely benign Inborn genetic diseases 2022-01-07 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.
PreventionGenetics, part of Exact Sciences RCV003959888 SCV004772591 benign HLCS-related disorder 2019-11-22 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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