ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.1336C>T (p.Pro446Ser)

gnomAD frequency: 0.31563  dbSNP: rs2782643
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247399 SCV000312487 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713739 SCV000844368 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311387 SCV000846182 benign Inborn genetic diseases 2016-01-08 criteria provided, single submitter clinical testing This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000713739 SCV001717505 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000713739 SCV001860548 benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815264 SCV002062175 benign Developmental and epileptic encephalopathy, 18 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000713739 SCV005288411 benign not provided criteria provided, single submitter not provided

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