ClinVar Miner

Submissions for variant NM_005157.6(ABL1):c.2916G>A (p.Ser972=)

gnomAD frequency: 0.00523  dbSNP: rs143132804
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000963247 SCV001110390 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000963247 SCV004156537 benign not provided 2024-06-01 criteria provided, single submitter clinical testing ABL1: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000963247 SCV005323596 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001796336 SCV002035128 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796336 SCV002038071 benign not specified no assertion criteria provided clinical testing

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