ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.3121A>G (p.Asn1041Asp)

gnomAD frequency: 0.00004  dbSNP: rs770541943
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005094453 SCV001538803 benign not provided 2024-11-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003232323 SCV002815152 uncertain significance Sotos syndrome 2024-04-24 criteria provided, single submitter clinical testing

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