ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.431G>A (p.Arg144Gln)

gnomAD frequency: 0.00003  dbSNP: rs386833857
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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) RCV000049826 SCV000082235 probable-pathogenic GRACILE syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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