ClinVar Miner

Submissions for variant NM_198880.3(QRICH1):c.2159G>A (p.Arg720Gln)

dbSNP: rs1559920341
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003594711 SCV004244630 likely pathogenic Ververi-Brady syndrome 2023-10-17 criteria provided, single submitter clinical testing PS2, PM2, PP2, PP3

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