ClinVar Miner

Submissions for variant NM_001684.5(ATP2B4):c.2977C>T (p.Arg993Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004240269 SCV003754008 uncertain significance not specified 2022-04-25 criteria provided, single submitter clinical testing The c.2977C>T (p.R993C) alteration is located in exon 18 (coding exon 17) of the ATP2B4 gene. This alteration results from a C to T substitution at nucleotide position 2977, causing the arginine (R) at amino acid position 993 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003778621 SCV004615419 benign not provided 2023-12-26 criteria provided, single submitter clinical testing

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