ClinVar Miner

Submissions for variant NM_000504.4(F10):c.730G>A (p.Gly244Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV005231872 SCV005872815 pathogenic not provided 2025-03-04 criteria provided, single submitter clinical testing Classification criteria: PM2_Supporting, PP3_Moderate, PS4_Moderate, PP1_Moderate/Strong

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