ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.3599_3600del (p.Thr1200fs)

dbSNP: rs386833854
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049823 SCV000082232 probable-pathogenic Rapadilino syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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