ClinVar Miner

Submissions for variant NM_031427.4(DNAL1):c.449A>G (p.Asn150Ser)

dbSNP: rs387907021
Minimum review status: Collection method:
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023801 SCV000045092 pathogenic Primary ciliary dyskinesia 16 2011-05-13 no assertion criteria provided literature only
GeneReviews RCV000023801 SCV000087267 pathologic Primary ciliary dyskinesia 16 2011-09-15 no assertion criteria provided curation Converted during submission to Pathogenic.
GeneReviews RCV000190934 SCV000245820 not provided Kartagener syndrome no assertion provided literature only

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