ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.6603C>T (p.Ala2201=)

gnomAD frequency: 0.00073  dbSNP: rs3809986
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001567078 SCV001790704 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501913 SCV002802934 likely benign Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2022-04-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001567078 SCV005215274 likely benign not provided criteria provided, single submitter not provided

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