ClinVar Miner

Submissions for variant NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) (rs1564493599)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics,University of Ottawa RCV000766226 SCV000891785 pathogenic Global developmental delay; Seizures 2019-03-26 no assertion criteria provided clinical testing Identified de novo in each of six individuals with epilepsy and developmental delay by whole-exome trio sequencing.
GenomeConnect, ClinGen RCV000709842 SCV000840172 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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