ClinVar Miner

Submissions for variant NM_201550.4(LRRC10):c.29C>T (p.Ala10Val)

gnomAD frequency: 0.00048  dbSNP: rs201435560
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549212 SCV000659729 likely benign Dilated Cardiomyopathy, Dominant 2025-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024431 SCV004897150 uncertain significance not specified 2021-09-27 criteria provided, single submitter clinical testing The c.29C>T (p.A10V) alteration is located in exon 1 (coding exon 1) of the LRRC10 gene. This alteration results from a C to T substitution at nucleotide position 29, causing the alanine (A) at amino acid position 10 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004705672 SCV005216126 likely benign not provided criteria provided, single submitter not provided

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