ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.11827C>G (p.Arg3943Gly)

dbSNP: rs762677981
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240779 SCV001413751 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563980 SCV003726386 uncertain significance Inborn genetic diseases 2022-06-21 criteria provided, single submitter clinical testing The c.11827C>G (p.R3943G) alteration is located in exon 57 (coding exon 57) of the ADGRV1 gene. This alteration results from a C to G substitution at nucleotide position 11827, causing the arginine (R) at amino acid position 3943 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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