ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.15884A>T (p.Glu5295Val)

gnomAD frequency: 0.00005  dbSNP: rs766907011
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001237888 SCV001410674 likely benign not provided 2024-02-07 criteria provided, single submitter clinical testing
GeneDx RCV001237888 SCV004167759 uncertain significance not provided 2023-04-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV001237888 SCV004698334 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ADGRV1: BP4
Ambry Genetics RCV004609695 SCV005109546 uncertain significance Inborn genetic diseases 2024-05-02 criteria provided, single submitter clinical testing The c.15884A>T (p.E5295V) alteration is located in exon 74 (coding exon 74) of the ADGRV1 gene. This alteration results from a A to T substitution at nucleotide position 15884, causing the glutamic acid (E) at amino acid position 5295 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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