ClinVar Miner

Submissions for variant NM_001353812.2(ATP11C):c.2159T>G (p.Ile720Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003143602 SCV003832778 uncertain significance X-linked congenital hemolytic anemia 2022-09-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246101 SCV003938681 uncertain significance not specified 2023-05-17 criteria provided, single submitter clinical testing The c.2168T>G (p.I723R) alteration is located in exon 19 (coding exon 19) of the ATP11C gene. This alteration results from a T to G substitution at nucleotide position 2168, causing the isoleucine (I) at amino acid position 723 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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