ClinVar Miner

Submissions for variant NM_130900.3(RAET1L):c.671C>T (p.Ala224Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004665316 SCV005163538 uncertain significance not specified 2024-04-20 criteria provided, single submitter clinical testing The c.671C>T (p.A224V) alteration is located in exon 4 (coding exon 4) of the RAET1L gene. This alteration results from a C to T substitution at nucleotide position 671, causing the alanine (A) at amino acid position 224 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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