ClinVar Miner

Submissions for variant NM_130900.3(RAET1L):c.442T>C (p.Phe148Leu)

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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 RCV004665317 SCV005163539 uncertain significance not specified 2024-06-19 criteria provided, single submitter clinical testing The c.442T>C (p.F148L) alteration is located in exon 3 (coding exon 3) of the RAET1L gene. This alteration results from a T to C substitution at nucleotide position 442, causing the phenylalanine (F) at amino acid position 148 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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