ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3037G>A (p.Asp1013Asn)

dbSNP: rs45517279
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564158 SCV000675701 likely benign Hereditary cancer-predisposing syndrome 2022-10-13 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 RCV000644084 SCV000765774 likely benign Tuberous sclerosis 2 2024-10-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000644084 SCV002039711 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043439 SCV000067246 not provided Tuberous sclerosis syndrome no assertion provided curation

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