ClinVar Miner

Submissions for variant NM_002816.5(PSMD12):c.112G>A (p.Gly38Arg)

dbSNP: rs2042087429
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV001249302 SCV001423260 not provided Stankiewicz-Isidor syndrome no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 02-06-2019 by Lab or GTR ID 26957. 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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