ClinVar Miner

Submissions for variant NM_018092.5(NETO2):c.1325C>T (p.Ser442Leu)

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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 RCV004831993 SCV005457127 uncertain significance not specified 2024-11-15 criteria provided, single submitter clinical testing The c.1325C>T (p.S442L) alteration is located in exon 9 (coding exon 9) of the NETO2 gene. This alteration results from a C to T substitution at nucleotide position 1325, causing the serine (S) at amino acid position 442 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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