ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.3329-8C>G

dbSNP: rs369748756
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001487095 SCV001691579 likely benign Progressive familial heart block type IB 2022-06-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505303 SCV002806511 likely benign Progressive familial heart block type IB; Erythrokeratodermia variabilis et progressiva 6 2021-08-10 criteria provided, single submitter clinical testing
GeneDx RCV004726728 SCV005335014 uncertain significance not provided 2024-03-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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