ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1924+19C>A

gnomAD frequency: 0.00694  dbSNP: rs113075119
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001513285 SCV001720878 benign Fanconi anemia 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001538224 SCV001755844 likely benign not provided 2019-06-28 criteria provided, single submitter clinical testing

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