ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5250G>A (p.Ala1750=)

dbSNP: rs370495748
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556536 SCV000626450 likely benign Fanconi anemia 2023-11-16 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316680 SCV004015499 likely benign Fanconi anemia complementation group P 2023-07-07 criteria provided, single submitter clinical testing

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