ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.6820G>A (p.Ala2274Thr)

gnomAD frequency: 0.00018  dbSNP: rs190391786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288199 SCV001475155 uncertain significance not provided 2020-05-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001288199 SCV002367240 likely benign not provided 2024-12-08 criteria provided, single submitter clinical testing

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