ClinVar Miner

Submissions for variant NC_000001.11:g.11262571G>T

gnomAD frequency: 0.53292  dbSNP: rs2295080
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Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516273 SCV001724535 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001516273 SCV001949138 benign not provided 2018-07-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23555892, 23209702, 25776475)
Breakthrough Genomics, Breakthrough Genomics RCV001516273 SCV005284346 benign not provided criteria provided, single submitter not provided

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