ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.13364G>A (p.Ser4455Asn)

dbSNP: rs727503081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150783 SCV000198283 likely benign not specified 2013-10-17 criteria provided, single submitter clinical testing Ser4455Asn in Exon 66 of GPR98: This variant is not expected to have clinical si gnificance because the serine (Ser) residue at position 4455 is not conserved th rough species, with shrew, rock hyrax, wallaby, opossum, and platypus having an asparagine (Asn) at this position.
Invitae RCV003669109 SCV004389575 likely benign not provided 2023-08-30 criteria provided, single submitter clinical testing

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