ClinVar Miner

Submissions for variant NM_020693.4(DSCAML1):c.2159A>G (p.Lys720Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002963168 SCV003288223 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004065070 SCV003638048 uncertain significance not specified 2021-08-12 criteria provided, single submitter clinical testing The c.2339A>G (p.K780R) alteration is located in exon 10 (coding exon 10) of the DSCAML1 gene. This alteration results from a A to G substitution at nucleotide position 2339, causing the lysine (K) at amino acid position 780 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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