ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.745G>A (p.Val249Met)

gnomAD frequency: 0.00101  dbSNP: rs148066529
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001568184 SCV001792010 likely benign not provided 2020-07-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276797 SCV002566795 uncertain significance Connective tissue disorder 2019-02-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001568184 SCV003811396 uncertain significance not provided 2019-10-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001568184 SCV005258437 likely benign not provided criteria provided, single submitter not provided

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