ClinVar Miner

Submissions for variant NM_001379286.1(ZNF423):c.2268G>T (p.Lys756Asn)

gnomAD frequency: 0.00003  dbSNP: rs750555513
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001340125 SCV001533924 benign Nephronophthisis 14 2023-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035923 SCV004095693 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing The c.2244G>T (p.K748N) alteration is located in exon 5 (coding exon 4) of the ZNF423 gene. This alteration results from a G to T substitution at nucleotide position 2244, causing the lysine (K) at amino acid position 748 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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