ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1142-33A>G

gnomAD frequency: 0.15388  dbSNP: rs6597586
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254427 SCV000303841 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001675597 SCV001894502 benign not provided 2018-06-21 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315571 SCV004015646 benign Tuberous sclerosis 1 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001675597 SCV005321593 benign not provided criteria provided, single submitter not provided
Tuberous sclerosis database (TSC1) RCV000041994 SCV000065774 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC1) RCV000055040 SCV000083258 not provided Malignant tumor of urinary bladder no assertion provided curation

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