ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.187C>T (p.Arg63Cys)

dbSNP: rs775619948
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508379 SCV001714500 uncertain significance not provided 2019-10-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145680 SCV003829403 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2021-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298912 SCV004002173 uncertain significance Inborn genetic diseases 2023-05-23 criteria provided, single submitter clinical testing The c.187C>T (p.R63C) alteration is located in exon 2 (coding exon 2) of the CDAN1 gene. This alteration results from a C to T substitution at nucleotide position 187, causing the arginine (R) at amino acid position 63 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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