ClinVar Miner

Submissions for variant NM_052867.4(NALCN):c.1571G>A (p.Ser524Asn)

dbSNP: rs1566460907
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Research Council, Institute of Genetics and Biomedical Research RCV000768410 SCV000882550 likely pathogenic Congenital contractures of the limbs and face, hypotonia, and developmental delay no assertion criteria provided research

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