ClinVar Miner

Submissions for variant NM_000395.3(CSF2RB):c.1503G>A (p.Ser501=)

gnomAD frequency: 0.00107  dbSNP: rs145912937
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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 RCV001703002 SCV002443847 benign not provided 2025-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001703002 SCV005277176 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703002 SCV001928558 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001703002 SCV001973018 likely benign not provided no assertion criteria provided clinical testing

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