ClinVar Miner

Submissions for variant NM_172245.4(CSF2RA):c.708G>A (p.Arg236=)

gnomAD frequency: 0.00006  dbSNP: rs749330435
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002173581 SCV002424135 likely benign Surfactant metabolism dysfunction, pulmonary, 4 2021-11-15 criteria provided, single submitter clinical testing

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