ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.449A>G (p.Asn150Ser)

gnomAD frequency: 0.00003  dbSNP: rs775440063
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002029152 SCV002290817 likely benign not provided 2024-02-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498025 SCV002806869 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2022-01-19 criteria provided, single submitter clinical testing

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