ClinVar Miner

Submissions for variant NM_025083.5(EDC3):c.109C>G (p.Leu37Val)

gnomAD frequency: 0.00067  dbSNP: rs139450223
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000913531 SCV001058680 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029367 SCV003541132 uncertain significance not specified 2025-01-09 criteria provided, single submitter clinical testing The c.109C>G (p.L37V) alteration is located in exon 5 (coding exon 1) of the EDC3 gene. This alteration results from a C to G substitution at nucleotide position 109, causing the leucine (L) at amino acid position 37 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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