ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.9189A>C (p.Leu3063Phe)

gnomAD frequency: 0.00001  dbSNP: rs201401085
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001201611 SCV001372689 likely benign not provided 2023-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002561082 SCV003663907 uncertain significance Inborn genetic diseases 2022-11-18 criteria provided, single submitter clinical testing The c.9189A>C (p.L3063F) alteration is located in exon 43 (coding exon 43) of the ADGRV1 gene. This alteration results from a A to C substitution at nucleotide position 9189, causing the leucine (L) at amino acid position 3063 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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