ClinVar Miner

Submissions for variant NM_003562.5(SLC25A11):c.671G>A (p.Cys224Tyr)

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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 RCV004223692 SCV003726151 uncertain significance not specified 2022-03-31 criteria provided, single submitter clinical testing The c.671G>A (p.C224Y) alteration is located in exon 6 (coding exon 6) of the SLC25A11 gene. This alteration results from a G to A substitution at nucleotide position 671, causing the cysteine (C) at amino acid position 224 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005099073 SCV005774839 likely benign not provided 2025-01-12 criteria provided, single submitter clinical testing

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