ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.7149C>T (p.Ala2383=)

gnomAD frequency: 0.00096  dbSNP: rs60480887
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317608 SCV000851183 likely benign Inborn genetic diseases 2016-08-12 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000860880 SCV001001054 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000860880 SCV001146052 benign not provided 2019-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000860880 SCV001776219 likely benign not provided 2020-11-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003457782 SCV004180353 benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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