ClinVar Miner

Submissions for variant NM_006122.4(MAN2A2):c.478G>A (p.Asp160Asn)

gnomAD frequency: 0.00003  dbSNP: rs374688808
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics, Erasmus University Medical Center RCV000984694 SCV000994811 uncertain significance Aganglionic megacolon 2019-05-16 no assertion criteria provided clinical testing

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