ClinVar Miner

Submissions for variant NM_001012339.3(DNAJC21):c.821G>A (p.Arg274Gln)

gnomAD frequency: 0.00036  dbSNP: rs77129269
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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 RCV000894820 SCV001038828 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495415 SCV002796658 likely benign Shwachman-Diamond syndrome 1; Bone marrow failure syndrome 3 2021-09-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000894820 SCV005299767 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003922838 SCV004741460 likely benign DNAJC21-related disorder 2022-03-31 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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