ClinVar Miner

Submissions for variant NM_005739.4(RASGRP1):c.1485T>C (p.Phe495=)

gnomAD frequency: 0.22715  dbSNP: rs12324402
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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 RCV001521862 SCV001731280 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796549 SCV002033451 benign Immunodeficiency 64 2021-11-07 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003399313 SCV004102302 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 38% of patients studied by a panel of primary immunodeficiencies. Number of patients: 36. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001521862 SCV005296195 benign not provided criteria provided, single submitter not provided

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